592 related articles for article (PubMed ID: 23695678)
1. Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels.
Albuisson J; Murthy SE; Bandell M; Coste B; Louis-Dit-Picard H; Mathur J; Fénéant-Thibault M; Tertian G; de Jaureguiberry JP; Syfuss PY; Cahalan S; Garçon L; Toutain F; Simon Rohrlich P; Delaunay J; Picard V; Jeunemaitre X; Patapoutian A
Nat Commun; 2013; 4():1884. PubMed ID: 23695678
[TBL] [Abstract][Full Text] [Related]
2. Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.
Andolfo I; Alper SL; De Franceschi L; Auriemma C; Russo R; De Falco L; Vallefuoco F; Esposito MR; Vandorpe DH; Shmukler BE; Narayan R; Montanaro D; D'Armiento M; Vetro A; Limongelli I; Zuffardi O; Glader BE; Schrier SL; Brugnara C; Stewart GW; Delaunay J; Iolascon A
Blood; 2013 May; 121(19):3925-35, S1-12. PubMed ID: 23479567
[TBL] [Abstract][Full Text] [Related]
3. Mechanosensitive Piezo1 ion channel protein (PIEZO1 gene): update and extended mutation analysis of hereditary xerocytosis in India.
More TA; Dongerdiye R; Devendra R; Warang PP; Kedar PS
Ann Hematol; 2020 Apr; 99(4):715-727. PubMed ID: 32112123
[TBL] [Abstract][Full Text] [Related]
4. Mild erythrocytosis as a presenting manifestation of
Knight T; Zaidi AU; Wu S; Gadgeel M; Buck S; Ravindranath Y
Pediatr Hematol Oncol; 2019 Aug; 36(5):317-326. PubMed ID: 31298594
[TBL] [Abstract][Full Text] [Related]
5. Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia.
Lukacs V; Mathur J; Mao R; Bayrak-Toydemir P; Procter M; Cahalan SM; Kim HJ; Bandell M; Longo N; Day RW; Stevenson DA; Patapoutian A; Krock BL
Nat Commun; 2015 Sep; 6():8329. PubMed ID: 26387913
[TBL] [Abstract][Full Text] [Related]
6. Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis.
Glogowska E; Schneider ER; Maksimova Y; Schulz VP; Lezon-Geyda K; Wu J; Radhakrishnan K; Keel SB; Mahoney D; Freidmann AM; Altura RA; Gracheva EO; Bagriantsev SN; Kalfa TA; Gallagher PG
Blood; 2017 Oct; 130(16):1845-1856. PubMed ID: 28716860
[TBL] [Abstract][Full Text] [Related]
7. A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature.
Zama D; Giulietti G; Muratore E; Andolfo I; Russo R; Iolascon A; Pession A
Ital J Pediatr; 2020 Jul; 46(1):102. PubMed ID: 32703298
[TBL] [Abstract][Full Text] [Related]
8. PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis.
Andolfo I; Manna F; De Rosa G; Rosato BE; Gambale A; Tomaiuolo G; Carciati A; Marra R; De Franceschi L; Iolascon A; Russo R
Haematologica; 2018 Mar; 103(3):e94-e97. PubMed ID: 29191841
[No Abstract] [Full Text] [Related]
9. Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis.
Zarychanski R; Schulz VP; Houston BL; Maksimova Y; Houston DS; Smith B; Rinehart J; Gallagher PG
Blood; 2012 Aug; 120(9):1908-15. PubMed ID: 22529292
[TBL] [Abstract][Full Text] [Related]
10. Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients.
Andolfo I; Russo R; Rosato BE; Manna F; Gambale A; Brugnara C; Iolascon A
Am J Hematol; 2018 Dec; 93(12):1509-1517. PubMed ID: 30187933
[TBL] [Abstract][Full Text] [Related]
11. Hereditary dehydrated stomatocytosis with splicing site mutation of PIEZO1 mimicking myelodysplastic syndrome diagnosed by targeted next-generation sequencing.
Park J; Jang W; Han E; Chae H; Yoo J; Kim Y; Kim YJ; Kim M
Pediatr Blood Cancer; 2018 Jul; 65(7):e27053. PubMed ID: 29603612
[No Abstract] [Full Text] [Related]
12. Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes?
Martin-Almedina S; Mansour S; Ostergaard P
J Physiol; 2018 Mar; 596(6):985-992. PubMed ID: 29331020
[TBL] [Abstract][Full Text] [Related]
13. Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
Fotiou E; Martin-Almedina S; Simpson MA; Lin S; Gordon K; Brice G; Atton G; Jeffery I; Rees DC; Mignot C; Vogt J; Homfray T; Snyder MP; Rockson SG; Jeffery S; Mortimer PS; Mansour S; Ostergaard P
Nat Commun; 2015 Sep; 6():8085. PubMed ID: 26333996
[TBL] [Abstract][Full Text] [Related]
14. Slower Piezo1 inactivation in dehydrated hereditary stomatocytosis (xerocytosis).
Demolombe S; Duprat F; Honoré E; Patel A
Biophys J; 2013 Aug; 105(4):833-4. PubMed ID: 23972832
[No Abstract] [Full Text] [Related]
15. PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus.
Imashuku S; Muramatsu H; Sugihara T; Okuno Y; Wang X; Yoshida K; Kato A; Kato K; Tatsumi Y; Hattori A; Kita S; Oe K; Sueyoshi A; Usui T; Shiraishi Y; Chiba K; Tanaka H; Miyano S; Ogawa S; Kojima S; Kanno H
Int J Hematol; 2016 Jul; 104(1):125-9. PubMed ID: 26971963
[TBL] [Abstract][Full Text] [Related]
16. Proteome alterations in erythrocytes with PIEZO1 gain-of-function mutations.
Andolfo I; Monaco V; Cozzolino F; Rosato BE; Marra R; Cerbone V; Pinto VM; Forni GL; Unal S; Iolascon A; Monti M; Russo R
Blood Adv; 2023 Jun; 7(12):2681-2693. PubMed ID: 36595486
[TBL] [Abstract][Full Text] [Related]
17. Dietary fatty acids fine-tune Piezo1 mechanical response.
Romero LO; Massey AE; Mata-Daboin AD; Sierra-Valdez FJ; Chauhan SC; Cordero-Morales JF; Vásquez V
Nat Commun; 2019 Mar; 10(1):1200. PubMed ID: 30867417
[TBL] [Abstract][Full Text] [Related]
18. Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).
Andolfo I; Russo R; Manna F; Shmukler BE; Gambale A; Vitiello G; De Rosa G; Brugnara C; Alper SL; Snyder LM; Iolascon A
Am J Hematol; 2015 Oct; 90(10):921-6. PubMed ID: 26178367
[TBL] [Abstract][Full Text] [Related]
19. Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway.
Andolfo I; Rosato BE; Manna F; De Rosa G; Marra R; Gambale A; Girelli D; Russo R; Iolascon A
Am J Hematol; 2020 Feb; 95(2):188-197. PubMed ID: 31737919
[TBL] [Abstract][Full Text] [Related]
20. Erythrocyte ion content and dehydration modulate maximal Gardos channel activity in KCNN4 V282M/+ hereditary xerocytosis red cells.
Rivera A; Vandorpe DH; Shmukler BE; Andolfo I; Iolascon A; Archer NM; Shabani E; Auerbach M; Hamerschlak N; Morton J; Wohlgemuth JG; Brugnara C; Snyder LM; Alper SL
Am J Physiol Cell Physiol; 2019 Aug; 317(2):C287-C302. PubMed ID: 31091145
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
